Screening #0000074507

Individual ID 00074346
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks -
Variants found? 3
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ANO5 anoctamin 5 11 p15.1 1 777 243 2019-10-23 GDD, LGMD-2L, dystrophy, muscular, Miyoshi, type 3
DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) 2 p13.3 1 2746 947 2019-10-11 DMAT, LGMD-2, LGMD-2B, MMD, MMD-1



Variants found

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Parent #1 +/. g.71753416G>A g.71526286G>A V374I - DYSF_000552 - Fichna ESHG2016 P10.20 - - Germline - - - 0 - Johan den Dunnen DYSF - - - - - 12 NM_003494.3:c.1120G>A - - r.(?) p.(Val374Ile) - - - - - - - - - - - - - - - - - - -
2 Parent #2 +/. g.71906365G>B g.71679235G>B A1982A splice - DYSF_000553 - Fichna ESHG2016 P10.20 - - Germline - - - 0 - Johan den Dunnen DYSF - - - - - 52 NM_003494.3:c.5946G>B - - r.spl p.? - - - - - - - - - - - - - - - - - - -
11 Parent #1 ?/. g.22281191A>G g.22259645A>G I512V - ANO5_000078 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 13 NM_213599.2:c.1534A>G - - r.(?) p.(Ile512Val) - - - - - - - - - - - - - - - - - - -
Legend